scholarly article | Q13442814 |
P50 | author | Isabella Moroni | Q80073353 |
Maurizio Moggio | Q80073417 | ||
Tiziana Mongini | Q80074802 | ||
Isabella Moroni | Q98569170 | ||
Francesco Muntoni | Q29645259 | ||
Eugenio Mercuri | Q30089987 | ||
Adele D'Amico | Q30112571 | ||
Angela Berardinelli | Q30169405 | ||
Francesca Magri | Q30169417 | ||
Enrico Bertini | Q30429884 | ||
Giacomo P Comi | Q38544677 | ||
Sonia Messina | Q43163114 | ||
Marina Mora | Q47504621 | ||
Giorgio Tasca | Q51231553 | ||
Enzo Ricci | Q56761057 | ||
Roberta Battini | Q56839319 | ||
Mauro Monforte | Q57091804 | ||
Filippo Maria Santorelli | Q60541206 | ||
P2093 | author name string | Alessandra Ferlini | |
Francesca Gualandi | |||
Alessandra Graziano | |||
Carlo Minetti | |||
Luisa Politano | |||
Marcello Villanova | |||
Marika Pane | |||
Roberta Petillo | |||
Claudio Bruno | |||
Elena Pegoraro | |||
Lucia Morandi | |||
Antonella Pini | |||
Guja Astrea | |||
Ksenija Gorni | |||
Flaviana Bianco | |||
P2860 | cites work | Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies | Q24617292 |
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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan | Q28249364 | ||
Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden | Q73455541 | ||
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Diagnosis and etiology of congenital muscular dystrophy | Q80412916 | ||
Diagnostic approach to the congenital muscular dystrophies | Q30767612 | ||
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation | Q33391488 | ||
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population | Q33685609 | ||
Natural history of pulmonary function in collagen VI-related myopathies | Q37383472 | ||
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The ever-expanding spectrum of congenital muscular dystrophies | Q38029277 | ||
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. | Q41924242 | ||
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Congenital muscular dystrophy with merosin deficiency | Q59281293 | ||
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Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations | Q61794269 | ||
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy | Q71482663 | ||
Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal | Q71791406 | ||
22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993 | Q72398226 | ||
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P433 | issue | 9 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Italy | Q38 |
congenital disorder | Q727096 | ||
congenital muscular dystrophy | Q1321884 | ||
P304 | page(s) | 904-11 | |
P577 | publication date | 2015-03-03 | |
P1433 | published in | Neurology | Q1161692 |
P1476 | title | Prevalence of congenital muscular dystrophy in Italy: a population study | |
P478 | volume | 84 |
Q88457883 | A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy |
Q58695079 | Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study |
Q46953467 | Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care. |
Q64065905 | Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report |
Q33844672 | Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. |
Q27023097 | Congenital muscular dystrophy: from muscle to brain |
Q91906240 | Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy |
Q33787898 | Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy |
Q54945496 | Lamins and bone disorders: current understanding and perspectives. |
Q91594164 | Muscular dystrophies |
Q41820882 | The evolution of the dystroglycan complex, a major mediator of muscle integrity |
Q60300741 | The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy |
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